Canavan disease

Canavan disease is a condition that affects how the body breaks down and uses aspartic acid.

Causes

Canavan disease is passed down (inherited) through families. It is more common among the Ashkenazi Jewish population than in the general population.

The lack of the enzyme aspartoacylase leads to a buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down.

There are two forms of the disease:

Neonatal (infantile) -- This is the most common form. Symptoms are severe. Babies seem to be normal the first few months after birth. By 3 to 5 months, they have developmental problems, such as those mentioned below under the Symptoms section of this article.

Juvenile -- This is a less common form. Symptoms are mild. Developmental problems are less severe than those of the neonatal form. In some cases, the symptoms are so mild that they go undiagnosed as Canavan disease.

Symptoms

Symptoms often begin in the first year of life. Parents tend to notice it when their child is not reaching certain developmental milestones, including head control.

When to Contact a Medical Professional

Prevention

Genetic counseling is recommended for people who want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost always tell if the parents are carriers.

A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid, the fluid that surrounds the womb.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2020, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM Health Solutions.